Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73440656G>C , CM000666.2:g.73440656G>C | GRCh38 |
| NC_000004.11:g.74306373G>C , CM000666.1:g.74306373G>C | GRCh37 |
| NC_000004.10:g.74525237G>C | NCBI36 |
| NG_023028.1:g.9441G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001134.3:c.325G>C MANE Select | NP_001125.1:p.Gly109Arg |
| ENST00000395792.7:c.325G>C MANE Select | ENSP00000379138.2:p.Gly109Arg |
| NM_001134.2:c.325G>C | NP_001125.1:p.Gly109Arg |
| NM_001354717.1:c.-8G>C | NP_001341646.1:n.-8G>C |
| NM_001354717.2:c.-8G>C | NP_001341646.2:n.-8G>C |
| ENST00000226359.2:c.325G>C | ENSP00000226359.2:p.Gly109Arg |
| ENST00000395792.6:c.325G>C | ENSP00000379138.2:p.Gly109Arg |
| XM_011531704.1:c.322G>C | XP_011530006.1:p.Gly108Arg |